Canavan disease: A first case from Jordan

Abstract

Canavan disease (CD) is a fatal, hereditary disorder of central nervous system development that has been linked to mutations in the gene for the enzyme aspartoacylase (ASPA) which leads to accumulation of N-acetyl aspartic acid (NAA) in the brain with resultant leukodystrophy. CD is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly, and seizures. We report a 3 months old male infant, the sixth child of healthy consanguineous second cousins parents, presenting with poor visual fixation poor response to sounds, axial and peripheral hypotonia, severe head lag, and exaggerated deep tendon reflexes in the upper and lower limbs. Family history revealed that the proband had four brothers and one sister with severe global delay, poor visual fixation, poor response to sounds, spasticity, poor head control and large heads. Urinary organic acids showed high levels of NAA, and ASPA gene mutation analysis identified a rare mutation in exon 1 (G27 R). This is the first case of CD to be reported from Jordan. Organic acid screening in urine for all infants with global delay and macrocephaly could lead to the diagnosis of more cases of CD in Jordan with determination of the most prevalent gene mutation and the designation of the relevant screening test.